Angelman Syndrome (AS) is a devastating neurological disorder with a prevalence of 1 in 15,000 that currently has no cure. AS presents with ataxia, frequent smiling, and laughter, lack of speech, and severe, debilitating seizures. Epilepsy in AS is often refractory to many prescribed medications, and frequently involves many seizure types. Furthermore, chronic, intractable epilepsy is shown to cause hippocampal damage and is associated with cognitive decline. The severity of seizures and lack of consistently effective anti-epileptic medications for AS patients demonstrates a considerable need for other therapeutic options.
Research in the AS field primarily focuses on finding an overall treatment for the disorder, without specific examination of the devastating epilepsy phenotype. Epilepsy is a common cause of death in AS and is present in over 80% of AS patients, with 77% of these patients remaining refractory. Unfortunately, common anti-epileptic drugs have serious adverse side effects, and there is limited data on alternative therapies, including dietary therapies.